Canonical Allele Identifier: CA2743277229

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092595_40092596del , CM000663.2:g.40092595_40092596del	GRCh38
NC_000001.10:g.40558267_40558268del , CM000663.1:g.40558267_40558268del	GRCh37
NC_000001.9:g.40330854_40330855del	NCBI36
NG_009192.1:g.9875_9876del , LRG_690:g.9875_9876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.129-89_129-88del	ENSP00000361865.5:n.129-89_129-88del
ENST00000433473.8:c.125-92_125-91del	ENSP00000394863.4:n.125-92_125-91del
ENST00000439754.6:c.125-89_125-88del	ENSP00000403207.2:n.125-89_125-88del
ENST00000449045.7:c.125-3084_125-3083del	ENSP00000392293.2:n.125-3084_125-3083del
ENST00000526547.2:c.405-89_405-88del
ENST00000527311.7:c.125-89_125-88del	ENSP00000436695.3:n.125-89_125-88del
ENST00000530704.6:c.125-89_125-88del	ENSP00000431655.1:n.125-89_125-88del
ENST00000641083.1:c.103-89_103-88del
ENST00000641236.1:n.137-89_137-88del
ENST00000641319.1:c.125-89_125-88del	ENSP00000493128.1:n.125-89_125-88del
ENST00000641471.1:c.212-89_212-88del	ENSP00000493146.1:n.212-89_212-88del
ENST00000641548.1:c.125-96_125-95del	ENSP00000492984.1:n.125-96_125-95del
ENST00000641691.1:c.125-96_125-95del	ENSP00000492910.1:n.125-96_125-95del
ENST00000641924.1:c.124+4519_124+4520del	ENSP00000493063.1:n.124+4519_124+4520del
ENST00000642050.2:c.125-89_125-88del MANE Select	ENSP00000493153.1:n.125-89_125-88del
ENST00000372779.8:c.212-89_212-88del	ENSP00000361865.4:n.212-89_212-88del
ENST00000433473.7:c.125-89_125-88del	ENSP00000394863.3:n.125-89_125-88del
ENST00000449045.6:c.125-3084_125-3083del	ENSP00000392293.2:n.125-3084_125-3083del
ENST00000526547.1:c.-26-89_-26-88del	ENSP00000436481.1:n.-26-89_-26-88del
ENST00000527311.6:c.125-539_125-538del	ENSP00000436695.2:n.125-539_125-538del
ENST00000529905.5:c.125-89_125-88del	ENSP00000432053.1:n.125-89_125-88del
ENST00000530704.5:c.125-89_125-88del	ENSP00000431655.1:n.125-89_125-88del
NM_000310.3:c.125-89_125-88del , LRG_690t1:c.125-89_125-88del	NP_000301.1:n.125-89_125-88del
NM_001142604.1:c.125-3084_125-3083del	NP_001136076.1:n.125-3084_125-3083del
XM_005271008.1:c.125-89_125-88del	XP_005271065.1:n.125-89_125-88del
NM_001363695.1:c.125-89_125-88del	NP_001350624.1:n.125-89_125-88del
NM_000310.4:c.125-89_125-88del MANE Select	NP_000301.1:n.125-89_125-88del
NM_001142604.2:c.125-3084_125-3083del	NP_001136076.1:n.125-3084_125-3083del
NM_001363695.2:c.125-89_125-88del	NP_001350624.1:n.125-89_125-88del